SNP Links for Gene (Select 407056) - SNP

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Select item 14912122891.

rs1491212289 has merged into rs60251233 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 19:51691212 (GRCh38)
19:52194465 (GRCh37)
Canonical SPDI:: NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGA,NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
-=0.18122/332 (Korea1K)
-=0.22517/1442 (1000Genomes)
-=0.23599/3953 (TOMMO)
-=0.34/204 (NorthernSweden)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000019.10:g.51691204GA[4], NC_000019.10:g.51691204GA[5], NC_000019.10:g.51691204GA[7], NC_000019.10:g.51691204GA[8], NC_000019.10:g.51691204GA[9], NC_000019.9:g.52194457GA[4], NC_000019.9:g.52194457GA[5], NC_000019.9:g.52194457GA[7], NC_000019.9:g.52194457GA[8], NC_000019.9:g.52194457GA[9]

Select item 14910008132.

rs1491000813 has merged into rs60251233 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 19:51691212 (GRCh38)
19:52194465 (GRCh37)
Canonical SPDI:: NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGA,NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000019.10:51691202:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
-=0.18122/332 (Korea1K)
-=0.22517/1442 (1000Genomes)
-=0.23599/3953 (TOMMO)
-=0.34/204 (NorthernSweden)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000019.10:g.51691204GA[4], NC_000019.10:g.51691204GA[5], NC_000019.10:g.51691204GA[7], NC_000019.10:g.51691204GA[8], NC_000019.10:g.51691204GA[9], NC_000019.9:g.52194457GA[4], NC_000019.9:g.52194457GA[5], NC_000019.9:g.52194457GA[7], NC_000019.9:g.52194457GA[8], NC_000019.9:g.52194457GA[9]

Select item 14896264153.

rs1489626415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51692921 (GRCh38)
19:52196174 (GRCh37)
Canonical SPDI:: NC_000019.10:51692920:T:C
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51692921T>C, NC_000019.9:g.52196174T>C, NR_108100.1:n.536A>G

Select item 14895551814.

rs1489555181 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:51691989 (GRCh38)
19:52195242 (GRCh37)
Canonical SPDI:: NC_000019.10:51691988:GGG:GG
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51691991del, NC_000019.9:g.52195244del

Select item 14867436335.

rs1486743633 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA,GC,GGCCGTAGAC,GT [Show Flanks]
Chromosome:: 19:51691024 (GRCh38)
19:52194278 (GRCh37)
Canonical SPDI:: NC_000019.10:51691024::GA,NC_000019.10:51691024::GC,NC_000019.10:51691024::GGCCGTAGAC,NC_000019.10:51691024::GT
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCCGTAGAC=0./0 (ALFA)
GGCCGTAGAC=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51691024_51691025insGA, NC_000019.10:g.51691024_51691025insGC, NC_000019.10:g.51691024_51691025insGGCCGTAGAC, NC_000019.10:g.51691024_51691025insGT, NC_000019.9:g.52194277_52194278insGA, NC_000019.9:g.52194277_52194278insGC, NC_000019.9:g.52194277_52194278insGGCCGTAGAC, NC_000019.9:g.52194277_52194278insGT

Select item 14865953966.

rs1486595396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51692398 (GRCh38)
19:52195651 (GRCh37)
Canonical SPDI:: NC_000019.10:51692397:C:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.51692398C>T, NC_000019.9:g.52195651C>T

Select item 14858470587.

rs1485847058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51691303 (GRCh38)
19:52194556 (GRCh37)
Canonical SPDI:: NC_000019.10:51691302:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.51691303G>A, NC_000019.9:g.52194556G>A

Select item 14836915148.

rs1483691514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51691973 (GRCh38)
19:52195226 (GRCh37)
Canonical SPDI:: NC_000019.10:51691972:C:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51691973C>T, NC_000019.9:g.52195226C>T

Select item 14831791419.

rs1483179141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51691888 (GRCh38)
19:52195141 (GRCh37)
Canonical SPDI:: NC_000019.10:51691887:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51691888G>A, NC_000019.9:g.52195141G>A

Select item 148311193210.

rs1483111932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51691963 (GRCh38)
19:52195216 (GRCh37)
Canonical SPDI:: NC_000019.10:51691962:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.51691963G>A, NC_000019.9:g.52195216G>A

Select item 148168892811.

rs1481688928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51691277 (GRCh38)
19:52194530 (GRCh37)
Canonical SPDI:: NC_000019.10:51691276:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.51691277G>A, NC_000019.9:g.52194530G>A

Select item 148123308512.

rs1481233085 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCTCCAGACCTGGCTCGAGC>- [Show Flanks]
Chromosome:: 19:51691151 (GRCh38)
19:52194404 (GRCh37)
Canonical SPDI:: NC_000019.10:51691149:CAGCTCCAGACCTGGCTCGAGC:C
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51691151_51691171del, NC_000019.9:g.52194404_52194424del

Select item 148072172013.

rs1480721720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51692636 (GRCh38)
19:52195889 (GRCh37)
Canonical SPDI:: NC_000019.10:51692635:T:C
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.51692636T>C, NC_000019.9:g.52195889T>C, NR_108100.1:n.821A>G, NR_029843.1:n.25T>C

Select item 147931664414.

rs1479316644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:51692202 (GRCh38)
19:52195455 (GRCh37)
Canonical SPDI:: NC_000019.10:51692201:G:A,NC_000019.10:51692201:G:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.51692202G>A, NC_000019.10:g.51692202G>T, NC_000019.9:g.52195455G>A, NC_000019.9:g.52195455G>T

Select item 147730713815.

rs1477307138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51690747 (GRCh38)
19:52194000 (GRCh37)
Canonical SPDI:: NC_000019.10:51690746:T:C
Gene:: SPACA6 (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51690747T>C, NC_000019.9:g.52194000T>C

Select item 147678971916.

rs1476789719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51692122 (GRCh38)
19:52195375 (GRCh37)
Canonical SPDI:: NC_000019.10:51692121:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000142/2 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.51692122G>A, NC_000019.9:g.52195375G>A

Select item 147659541217.

rs1476595412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:51691947 (GRCh38)
19:52195200 (GRCh37)
Canonical SPDI:: NC_000019.10:51691946:C:G,NC_000019.10:51691946:C:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.51691947C>G, NC_000019.10:g.51691947C>T, NC_000019.9:g.52195200C>G, NC_000019.9:g.52195200C>T

Select item 147481857118.

rs1474818571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:51692627 (GRCh38)
19:52195880 (GRCh37)
Canonical SPDI:: NC_000019.10:51692626:A:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51692627A>T, NC_000019.9:g.52195880A>T, NR_029843.1:n.16A>T

Select item 147417520119.

rs1474175201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51692544 (GRCh38)
19:52195797 (GRCh37)
Canonical SPDI:: NC_000019.10:51692543:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51692544G>A, NC_000019.9:g.52195797G>A

Select item 147327695320.

rs1473276953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51691457 (GRCh38)
19:52194710 (GRCh37)
Canonical SPDI:: NC_000019.10:51691456:C:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.51691457C>T, NC_000019.9:g.52194710C>T

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